Mireia de la Rosa Estadella

Objective: The risk of Abdominal Aortic Aneurysm (AAA) rupture is associated with the aneurysm size and growth rate. This study aims to provide a global description of growth rates per intervals of AAA diameter size for individuals in the Spanish population, to understand possible comorbidities associated with growth rate variability, and to assess practitioners on safe follow-up visits for AAA patients. Methods: We present the Triple-A Barcelona Study (TABS), a new hospital-based longitudinal study recruiting consecutive individuals with AAAs in Barcelona. So far, 469 individuals with measurements of the abdominal aortic diameter, along with anthropometric, clinical information, and blood samples for most follow-up visits, have been recruited. Statistical modeling was performed to identify the most relevant predictors of the diameter size and expansion in individuals with AAAs using linear mixed-effect models. Results: The average growth rate per interval was 0.78 (2.34) mm/year for aneurysms with an initial diameter between 30 and 40 mm, 1.22 (3.34) mm/year for aneurysms with an initial diameter between 40 and 50 mm, and 4.12 (5.09) mm/year for aneurysms with an initial diameter equal to or greater than 50 mm. The main factors determining the growth rate beyond the aortic diameter are sex and related comorbidities (COPD and DM). The estimated time to reach the surgical threshold for individuals with small aneurysms exceeded 10 years, on average. Conclusions: Overall, this study serves as a promising step towards the development of better prediction tools to assess clinical decisions in AAA patients in the Spanish population and to guide future screening policies.

Novel treatments in chronic lymphocytic leukemia (CLL) have generated interest regarding the clinical impact of genomic complexity, currently assessed by chromosome banding analysis (CBA) and chromosomal microarray analysis (CMA). Optical genome mapping (OGM), a novel technique based on imaging of long DNA molecules labeled at specific sites, allows the identification of multiple cytogenetic abnormalities in a single test. We aimed to determine whether OGM is a suitable alternative to cytogenomic assessment in CLL, especially focused on genomic complexity. Cytogenomic OGM aberrations from 42 patients were compared with CBA, FISH, and CMA information. Clinical–biological characteristics and time to first treatment (TTFT) were analyzed according to the complexity detected by OGM. Globally, OGM identified 90.3% of the known alterations (279/309). Discordances were mainly found in (peri-)centromeric or telomeric regions or subclonal aberrations (n = 12), which included 11/14 patients with ≥5 abnormalities by CBA/CMA and one patient with chromothripsis (Kappa index = 0.778; p < 0.001). Moreover, C-OGM displayed enrichment of TP53 abnormalities (58.3% vs. 3.3%, p < 0.001) and a significantly shorter TTFT (median: 2 vs. 43 months, p = 0.014). OGM is a robust technology for implementation in the routine management of CLL patients, although further studies are required to define standard genomic complexity criteria.